Table 1.
Classification of evidence for genes reported as causing catecholaminergic polymorphic ventricular tachycardia
| Gene | Protein | HGNC ID | Chromosomal location | Inheritance | Presence on GTR panels, n = 12 (%) | Scoring classification | Final expert classification | Other arrhythmia conditions with valid gene–disease relationship |
|---|---|---|---|---|---|---|---|---|
| RYR2 | Ryanodine receptor 2 | 10484 | 1q43 | AD | 100% | Definitive | Definitive | — |
| CASQ2 | Calsequestrin-2 | 1513 | 1p13.1 | AR | 100% | Definitive | Definitive | — |
| AD | Moderate | Moderate | ||||||
| TRDN | Triadin | 12261 | 6q22.31 | AR | 92% | Definitive | Definitive | LQTS |
| TECRL | Trans-2,3-enoyl-CoA reductase like | 27365 | 4q13.1 | AR | 25% | Definitive | Definitive | — |
| CALM1 | Calmodulin-1 | 1442 | 14q32.11 | AD | 92% | Moderate | Moderate a | LQTS |
| CALM2 | Calmodulin-2 | 1445 | 2p21 | AD | 58% | Moderate | Moderate a | LQTS |
| CALM3 | Calmodulin-3 | 1449 | 19q13.32 | AD | 67% | Limited | Moderate a | LQTS |
| KCNJ2 | Potassium voltage-gated channel subfamily J member 2 | 6263 | 17q24.3 | AD | 92% | Limited | Disputed | Andersen–Tawil syndrome, SQTS |
| SCN5A | Sodium voltage-gated channel alpha subunit 5 | 10593 | 3p22.2 | AD | 25% | Limited | Disputed | LQTS, BrS |
| PKP2 | Plakophilin-2 | 9024 | 12p11.21 | AD | 0% | Limited | Disputed | ARVC |
| ANK2 | Ankyrin-2 | 493 | 4q25-q26 | AD | 75% | Limited | Disputed | — |
Genes implicated in CPVT that were reappraised in this study.
AD, autosomal dominant; AR, autosomal recessive; ARVC, arrhythmogenic right ventricular cardiomyopathy; BrS, Brugada syndrome; CPVT, catecholaminergic polymorphic ventricular tachycardia; GTR, Genetic Testing Registry; LQTS, long QT syndrome; SQTS, short QT syndrome.
a
See Discussion regarding limitations of the gene curation template for the CALM gene family.